Mutant mitochondrial elongation factor G1 and combined oxidative phosphorylation deficiency.
Publication year
2004Source
The New England Journal of Medicine, 351, 20, (2004), pp. 2080-6ISSN
Publication type
Article / Letter to editor

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Organization
Paediatrics - OUD tm 2017
Psychiatry
Journal title
The New England Journal of Medicine
Volume
vol. 351
Issue
iss. 20
Page start
p. 2080
Page end
p. 6
Subject
UMCN 5.1: Genetic defects of metabolism; UMCN 5.3: Cellular energy metabolism; UMCN 5.4: Renal disordersAbstract
Although most components of the mitochondrial translation apparatus are encoded by nuclear genes, all known molecular defects associated with impaired mitochondrial translation are due to mutations in mitochondrial DNA. We investigated two siblings with a severe defect in mitochondrial translation, reduced levels of oxidative phosphorylation complexes containing mitochondrial DNA (mtDNA)-encoded subunits, and progressive hepatoencephalopathy. We mapped the defective gene to a region on chromosome 3q containing elongation factor G1 (EFG1), which encodes a mitochondrial translation factor. Sequencing of EFG1 revealed a mutation affecting a conserved residue of the guanosine triphosphate (GTP)-binding domain. These results define a new class of gene defects underlying disorders of oxidative phosphorylation.
This item appears in the following Collection(s)
- Academic publications [227437]
- Electronic publications [107154]
- Faculty of Medical Sciences [86157]
- Open Access publications [76289]
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